PhD Candidate
BBiomedSc (Hons)
Daniel is a PhD candidate who is working with families to better characterise a rare, neurodevelopmental disorder called MECP2 duplication syndrome (MDS).
Daniel knows that a key aspect of finding a cure for this disorder is understanding the natural history of MDS in order to identify therapeutic targets and better inform the development of orphan products.
As part of his research, Daniel has created the world’s first and largest patient database for MDS called the MECP2 Duplication Database (MDBase) which has been and will continue to serve as an important source of natural history data for research.
Daniel will continue to expand the clinical picture of MDS in the future utilising the MDBase and provide greater insight into the disorder.
- Projects
-
Publications
July 2023
How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication Syndrome
MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents.
Published research Child Disability Child disabilityMarch 2023The Investigation of Health-Related Topics on TikTok: A Descriptive Study Protocol
The social media application TikTok allows users to view and upload short-form videos. Recent evidence suggests it has significant potential for both industry and health promoters to influence public health behaviours. This protocol describes a standardised, replicable process for investigations that can be tailored to various areas of research interest, allowing comparison of content and features across public health topics.
Published research Child Disability Ear Health Youth Mental Health Healthy Skin and ARF Prevention Food and Nutrition Early Years SystemsDecember 2022Awake and Alert: Examining the Portrayal of Energy Drinks on TikTok
Energy drinks (EDs) are not recommended for minors' consumption due to a myriad of health risks, but marketing initiatives persist. This study explored the promotion of EDs on TikTok, a platform frequented by children and adolescents.
Published research Nutrition Child Disability Cardiometabolic Sunhealth Child Physical Activity, Health and Development Technology & Kids Food and Nutrition Child and adolescent healthJuly 2022Development of an International Database for a Rare Genetic Disorder: The MECP2 Duplication Database (MDBase)
The natural history of MECP2 duplication syndrome (MDS), a rare X-linked neurodevelopmental disorder with an estimated birth prevalence of 1/150,000 live births, is poorly understood due to a lack of clinical data collected for research. Such information is critical to the understanding of disease progression, therapeutic endpoints and outcome measures for clinical trials, as well as the development of therapies and orphan products.
Child Disability Vaccine Trials Group Children's Lung Health Subsite: Wesfarmers Centre of Vaccines and Infectious Diseases Child disability -
Education and Qualifications